Detecting low frequent loss-of-function alleles in genome wide association studies with red hair color as example.

Multiple loss-of-function (LOF) alleles at the same gene may influence a phenotype not only in the homozygote state when alleles are considered individually, but also in the compound heterozygote (CH) state. Such LOF alleles typically have low frequencies and moderate to large effects. Detecting suc...

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Bibliographic Details
Main Authors: Fan Liu, Maksim V Struchalin, Kate van Duijn, Albert Hofman, André G Uitterlinden, Cornelia van Duijn, Yurii S Aulchenko, Manfred Kayser
Format: Article
Language:English
Published: Public Library of Science (PLoS) 2011-01-01
Series:PLoS ONE
Online Access:http://europepmc.org/articles/PMC3226656?pdf=render